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3 results on '"Frade-Proud'Hon-Clerc S"'

1. Gene:Evidencesof Implication in Crohn's Disease

Author

Frade-Proud'hon-Clerc, S. (Sara), Smol, T. (Thomas), Frenois, F. (Frederic), Sand, O. (Olivier), Vaillant, E. (Emmanuel), Dhennin, V. (Veronique), Bonnefond, A. (Amelie), Froguel, P. (Philippe), Fumery, M. (Mathurin), Guillon-Dellac, N. (Nathalie), Gower, C. (Corinne), Vasseur, F. (Francis), CHU Lille, CNRS, Centrale Lille, Inserm, Institut Pasteur de Lille, Université de Lille, Evaluation des technologies de santé et des pratiques médicales - ULR 2694 [METRICS], Génomique Intégrative et Modélisation des Maladies Métaboliques (EGID) - UMR 8199, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 [RADEME], METRICS : Evaluation des technologies de santé et des pratiques médicales - ULR 2694, Metabolic functional (epi)genomics and molecular mechanisms involved in type 2 diabetes and related diseases - UMR 8199 - UMR 1283 [EGENODIA (GI3M)], CHU Amiens-Picardie, and Lille Inflammation Research International Center - U 995 [LIRIC]

Subjects
NOD2 gene, Crohn''s disease, variation, WES
Abstract

The gene, involved in innate immune responses to bacterial peptidoglycan, has been found to be closely associated with Crohn's Disease (CD), with an Odds Ratio ranging from 3⁻36. Families with three or more CD-affected members were related to a high frequency of gene variations, such as R702W, G908R, and 1007fs, and were reported in the EPIMAD Registry. However, some rare CD multiplex families were described without identification of common linked-to-disease variations. In order to identify new genetic variation(s) closely linked with CD, whole exome sequencing was performed on available subjects, comprising four patients in two generations affected with Crohn's disease without R702W and G908R variation and three unaffected related subjects. A rare and, not yet, reported missense variation of the gene, N1010K, was detected and co-segregated across affected patients. In silico evaluation and modelling highlighted evidence for an adverse effect of the N1010K variation with regard to CD. Moreover, cumulative characterization of N1010K and 1007fs as a compound heterozygous state in two, more severe CD family members strongly suggests that N1010K could well be a new risk factor involved in Crohn's disease genetic susceptibility. 20;4

Published
2019

2. A novel rare missense variation of the NOD2 gene: Evidences of implication in Crohn's Disease

Author

Frade-Proud'Hon-Clerc, S, Smol, T, Frenois, F, Sand, O, Vaillant, E, Dhennin, V, Bonnefond, A, Froguel, P, Fumery, M, Guillon-Dellac, N, Gower-Rousseau, C, and Vasseur, F

Subjects
SERVER, Crohn’s disease, Biochemistry & Molecular Biology, 0604 Genetics, Science & Technology, Chemical Physics, Chemistry, Multidisciplinary, 0699 Other Biological Sciences, NOD2 gene, SUSCEPTIBILITY, VARIANTS, Chemistry, Crohn's disease, ULCERATIVE-COLITIS, Physical Sciences, 0399 Other Chemical Sciences, WES, variation, Life Sciences & Biomedicine, MUTATION, INFLAMMATORY-BOWEL-DISEASE
Published
2019

3. A Novel Rare Missense Variation of the NOD2 Gene: Evidencesof Implication in Crohn's Disease.

Author

Frade-Proud'Hon-Clerc S, Smol T, Frenois F, Sand O, Vaillant E, Dhennin V, Bonnefond A, Froguel P, Fumery M, Guillon-Dellac N, Gower-Rousseau C, and Vasseur F

Subjects
Adolescent, Adult, Alleles, Child, Crohn Disease immunology, Crohn Disease pathology, Female, Genetic Association Studies, Genotype, Heterozygote, Humans, Male, Mutation, Mutation, Missense genetics, Nod2 Signaling Adaptor Protein chemistry, Nod2 Signaling Adaptor Protein immunology, Peptidoglycan immunology, Polymorphism, Single Nucleotide, Protein Conformation, Exome Sequencing, Crohn Disease genetics, Genetic Predisposition to Disease, Immunity, Innate genetics, Nod2 Signaling Adaptor Protein genetics
Abstract

The NOD2 gene, involved in innate immune responses to bacterial peptidoglycan, has been found to be closely associated with Crohn's Disease (CD), with an Odds Ratio ranging from 3⁻36. Families with three or more CD-affected members were related to a high frequency of NOD2 gene variations, such as R702W, G908R, and 1007fs, and were reported in the EPIMAD Registry. However, some rare CD multiplex families were described without identification of common NOD2 linked-to-disease variations. In order to identify new genetic variation(s) closely linked with CD, whole exome sequencing was performed on available subjects, comprising four patients in two generations affected with Crohn's disease without R702W and G908R variation and three unaffected related subjects. A rare and, not yet, reported missense variation of the NOD2 gene, N1010K, was detected and co-segregated across affected patients. In silico evaluation and modelling highlighted evidence for an adverse effect of the N1010K variation with regard to CD. Moreover, cumulative characterization of N1010K and 1007fs as a compound heterozygous state in two, more severe CD family members strongly suggests that N1010K could well be a new risk factor involved in Crohn's disease genetic susceptibility.

Published
2019
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